Analysis of APPL1 Gene Polymorphisms in Patients with a Phenotype of Maturity Onset Diabetes of the Young

• Published in: Journal of personalized medicine Vol. 10; no. 3; p. 100
• Main Authors: Ivanoshchuk, Dinara E, Shakhtshneider, Elena V, Rymar, Oksana D, Ovsyannikova, Alla K, Mikhailova, Svetlana V, Orlov, Pavel S, Ragino, Yuliya I, Voevoda, Mikhail I
• Format: Journal Article
• Language: English
• Published: Basel MDPI AG 01.09.2020; MDPI
• Subjects: Adipocytes; Adiponectin; Analysis; APPL1; Association analysis; Blood glucose; Blood levels; Carbohydrate metabolism; Cardiovascular disease; Demographic aspects; Diabetes; diabetes mellitus; Diabetes mellitus (non-insulin dependent); Exons; Gene frequency; Gene polymorphism; Genes; Genetic aspects; Genetic polymorphisms; Genotype & phenotype; Genotyping; Glucose; Hyperglycemia; Insulin; Insulin resistance; Kinases; Liver; Maturity; maturity onset diabetes of the young type 14; Metabolism; Musculoskeletal system; Mutation; Obesity; Pancreas; Phenotypes; Phosphorylation; population; Population genetics; Precision medicine; Proteins; Risk factors; single-nucleotide variant; Statistical analysis; Russia; United States > US

The APPL1 gene encodes a protein mediating the cross-talk between adiponectin and insulin signaling. Recently, it was found that APPL1 mutations can cause maturity onset diabetes of the young, type 14. Here, an analysis of APPL1 was performed in patients with a maturity-onset diabetes of the young (...